Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P02794 (ferritin)
 17,525 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 28-year-old man presented in 1992 with decreased libido and erectile dysfunction. He was found to have central hypogonadism with low serum levels of testosterone, LH and FSH. Computer tomography of the cella turcica was normal. Apart from hypogonadism, the pituitary function was normal. He was successfully treated with testosterone injections. In June 1995, elevated levels of serum ferritin (4,094 micrograms/l) and transferrin saturation (94%) raised suspicion of hemochromatosis. The diagnosis was confirmed by a percutaneous liver biopsy, and treatment started with regular phlebotomies. After three years of treatment the serum levels of LH and testosterone were normalized. Hypogonadism is, except for diabetes mellitus, the most frequent endocrine disturbance in hemochromatosis. It is found almost exclusively in male patients. It is important to exclude hypogonadism in male patients with hemochromatosis, but it is also important to exclude hemochromatosis in male patients with hypogonadism.
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PMID:[Hemochromatosis--a rare cause of hypogonadism]. 1049 2

A 36-year-old patient with primary haemochromatosis presented with erectile dysfunction. Laboratory findings revealed reduced levels of luteinizing hormone (0.4 IU/l; normal range 2-12 IU/l), follicle-stimulating hormone (0.1 IU/l; normal range 1-12 IU/l) and testosterone (0.49 microg/l; normal range 2-8.1 microg/l). We made the diagnosis of secondary hypogonadism due to haemochromatosis, which is generally supposed to be irreversible. Due to consequent venesection therapy, levels of ferritin and transferrin saturation could be normalized, and levels of luteinizing hormone and follicle-stimulating hormone increased to normal ranges. Also, testosterone levels became normal and remained so without any androgen substitution. The patient subsequently regained erectile function and potency. This case underlines the fact that a hypogonadotrophic hypogonadism caused by iron overload can be reversed by a consequent venesection therapy.
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PMID:Successful treatment of erectile dysfunction and infertility by venesection in a patient with primary haemochromatosis. 1150 69

Juvenile hemochromatosis (JH) is a severe form of hemochromatosis, which involves rapid iron overload and leads to organ damage, typically before the age of 30. We report a single case of a 25-year-old man suffering from juvenile hemochromatosis, with aggressive clinical manifestations, typically characterized by transaminasemia and progressive erectile dysfunction, due to hypogonadotropic hypogonadism. The clinical case appears interesting, as the patient also had secondary osteoporosis accompanied by increased bone resorption, which prevalently affected trabecular bone. Approximately 6 months after normalization of serum ferritin levels was achieved by frequent phlebotomies, he became eugonadal and bone mineral density of the lumbar spine increased. Our observations suggest that osteoporosis might occur in the state of JH even at a young age, mainly due to the deprivation of sex steroids and the direct tissue toxicity of iron.
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PMID:Osteoporosis in HFE2 juvenile hemochromatosis. A case report and review of the literature. 1599 23